[Chinese expert consensus for the diagnosis and treatment of von Hippel-Lindau syndrome (2025 edition)].
摘要
von Hippel-Lindau (VHL) syndrome is an autosomal dominant hereditary disorder caused by germline heterozygous pathogenic variants of the VHL gene or promoter hypermethylation. It is characterized by multiple tumors and cystic lesions, primarily affecting the central nervous system, retina, kidneys, pancreas, adrenal glands, and other organs. In recent years, significant progress has been made in both basic and clinical research on VHL syndrome, particularly in genotype-phenotype correlations and targeted therapies, such as the clinical application of hypoxia-inducible factor-2α inhibitors. To further standardize the diagnosis and management of VHL syndrome in China, the Chinese Society of Rare Diseases of the Chinese Medical Association, the Beijing Society of Rare Diseases, and the Chinese Alliance for Genetic and Rare Diseases of the Urinary System of the Chinese Urological Association have updated the epidemiological, genetic, and clinical characteristics, diagnostic criteria, treatment strategies, and long-term management protocols based on the latest evidence-based medical findings and the "Chinese expert consensus for the diagnosis and treatment of von Hippel-Lindau syndrome" in the 2018 edition, and forms 12 recommended suggestions, aiming to provide scientific guidance for clinical practice.